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Pediatr Blood Cancer. 2012 Dec 15;59(7):1296-8. doi: 10.1002/pbc.24159. Epub 2012 Apr 5.

Congenital thrombotic thrombocytopenic purpura (cTTP) with two novel mutations.

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  • 1Blood and Cancer Centre, Starship Children's Hospital, Auckland, New Zealand.


Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare disorder of childhood that has clinical and laboratory similarities to other, more common conditions. Prompt recognition is required as delays in therapy are associated with significant morbidity and failure to treat may lead to death. While the principles of treatment have not changed, enormous progress in the genetic and molecular understanding has taken place. Emerging treatment options may offer some hope of improved quality of life in future. We describe a Chinese patient with cTTP which resulted from two previously undescribed mutations in the ADAMTS13 gene.

Copyright © 2012 Wiley Periodicals, Inc.

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